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  2. 6-Pyruvoyltetrahydropterin synthase deficiency - Wikipedia

    en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin...

    PTPS deficiency is not necessarily its own disease. It shares history with PKU and hyperphenylalaninemia (HPA) . Asbjørn Følling, a physician studying metabolic diseases, identified an excess of phenylpyruvate as the cause of a strange, musty odor from the urine of two Norwegian children. [13]

  3. Tetrahydrobiopterin deficiency - Wikipedia

    en.wikipedia.org/wiki/Tetrahydrobiopterin_deficiency

    Tetrahydrobiopterin deficiency (THBD, BH 4 D) is a rare metabolic disorder that increases the blood levels of phenylalanine.Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems.

  4. Hypothyroidism in dogs - Wikipedia

    en.wikipedia.org/wiki/Hypothyroidism_in_dogs

    Hypothyroidism is classified as either primary, secondary, or tertiary. Primary hypothyroidism is for when the cause is due to an abnormality of the thyroid gland, secondary hypothyroidism is when the cause is decreased thyroid-stimulating hormone levels, and tertiary hypothyroidism is when the cause is an inadequate amount of thyrotropin-releasing hormone being released.

  5. Tyrosinemia - Wikipedia

    en.wikipedia.org/wiki/Tyrosinemia

    It is a 4-hydroxyphenylpyruvate dioxygenase inhibitor indicated for the treatment of hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine. [7] Liver transplant is indicated for patients with tyrosinemia type I who do not respond to nitisinone, as well as those with acute liver failure and ...

  6. Hyperphenylalaninemia - Wikipedia

    en.wikipedia.org/wiki/Hyperphenylalaninemia

    Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of the entire or partial absence of the enzyme phenylalanine hydroxylase. [3]

  7. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.

  8. Hawkinsinuria - Wikipedia

    en.wikipedia.org/wiki/Hawkinsinuria

    Hawkinsinuria is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine. [1] [2] Normally, the breakdown of the amino acid tyrosine involves the conversion of 4-hydroxyphenylpyruvate to homogentisate by 4-hydroxyphenylpyruvate dioxygenase. Complete deficiency of this enzyme would lead to tyrosinemia III. In rare cases ...

  9. Catecholamine - Wikipedia

    en.wikipedia.org/wiki/Catecholamine

    In mammals, tyrosine can be formed from dietary phenylalanine by the enzyme phenylalanine hydroxylase, found in large amounts in the liver. Insufficient amounts of phenylalanine hydroxylase result in phenylketonuria , a metabolic disorder that leads to intellectual deficits unless treated by dietary manipulation.

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